Mutagenetix > Incidental Mutation

Incidental Mutation 'R8712:Marchf1'

669648

Institutional Source

Beutler Lab

Gene Symbol

Marchf1

Ensembl Gene

ENSMUSG00000036469

Gene Name

membrane associated ring-CH-type finger 1

Synonyms

March1, 2900024D24Rik

MMRRC Submission

068566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R8712 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66070552-66924289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66921000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 226 (K226E)

Ref Sequence

ENSEMBL: ENSMUSP00000105884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026681] [ENSMUST00000039540] [ENSMUST00000072482] [ENSMUST00000098708] [ENSMUST00000110253] [ENSMUST00000110255] [ENSMUST00000110256] [ENSMUST00000110258] [ENSMUST00000110259] [ENSMUST00000178982]

AlphaFold

Q6NZQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000026681

SMART Domains

Protein: ENSMUSP00000026681
Gene: ENSMUSG00000025591

Domain	Start	End	E-Value	Type
Pfam:DUF2962	10	162	1.6e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000039540
AA Change: K216E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044070
Gene: ENSMUSG00000036469
AA Change: K216E

Domain	Start	End	E-Value	Type
RINGv	69	117	2.63e-22	SMART
transmembrane domain	145	167	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000072482
AA Change: K226E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072302
Gene: ENSMUSG00000036469
AA Change: K226E

Domain	Start	End	E-Value	Type
low complexity region	25	54	N/A	INTRINSIC
RINGv	75	123	2.63e-22	SMART
transmembrane domain	151	173	N/A	INTRINSIC
transmembrane domain	193	215	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098708
AA Change: K226E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096305
Gene: ENSMUSG00000036469
AA Change: K226E

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
RINGv	79	127	2.63e-22	SMART
transmembrane domain	155	177	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110253
AA Change: K220E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105882
Gene: ENSMUSG00000036469
AA Change: K220E

Domain	Start	End	E-Value	Type
RINGv	69	117	2.63e-22	SMART
transmembrane domain	145	167	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110255
AA Change: K226E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105884
Gene: ENSMUSG00000036469
AA Change: K226E

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
RINGv	79	127	2.63e-22	SMART
transmembrane domain	155	177	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110256
AA Change: K481E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105885
Gene: ENSMUSG00000036469
AA Change: K481E

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
low complexity region	111	125	N/A	INTRINSIC
low complexity region	151	165	N/A	INTRINSIC
RINGv	330	378	2.14e-22	SMART
transmembrane domain	406	428	N/A	INTRINSIC
transmembrane domain	448	470	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110258
AA Change: K230E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105887
Gene: ENSMUSG00000036469
AA Change: K230E

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
RINGv	79	127	2.63e-22	SMART
transmembrane domain	155	177	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110259
AA Change: K226E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105888
Gene: ENSMUSG00000036469
AA Change: K226E

Domain	Start	End	E-Value	Type
low complexity region	25	54	N/A	INTRINSIC
RINGv	75	123	2.63e-22	SMART
transmembrane domain	151	173	N/A	INTRINSIC
transmembrane domain	193	215	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000178982
AA Change: K230E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136545
Gene: ENSMUSG00000036469
AA Change: K230E

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
RINGv	79	127	2.63e-22	SMART
transmembrane domain	155	177	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal dendritic cell morphology and physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	T	16: 85,594,896 (GRCm39)	N617K	probably benign	Het
Adnp2	A	T	18: 80,174,185 (GRCm39)	C75S	probably damaging	Het
Agmo	T	C	12: 37,407,673 (GRCm39)	F186L	possibly damaging	Het
Ahnak2	T	C	12: 112,749,872 (GRCm39)	Y122C		Het
Ahnak2	T	C	12: 112,750,709 (GRCm39)	E71G		Het
Aldh5a1	A	G	13: 25,102,524 (GRCm39)	V313A	probably damaging	Het
Ankib1	C	A	5: 3,822,643 (GRCm39)	C21F	probably benign	Het
Aqr	A	G	2: 113,949,358 (GRCm39)	Y947H	probably damaging	Het
Atp1a2	T	A	1: 172,103,547 (GRCm39)	Y991F	probably benign	Het
Atp8b3	G	A	10: 80,365,923 (GRCm39)	T309M	possibly damaging	Het
Blzf1	T	A	1: 164,125,859 (GRCm39)	D259V	possibly damaging	Het
Cacng5	T	C	11: 107,772,510 (GRCm39)	I113V	probably benign	Het
Catsper3	T	C	13: 55,953,657 (GRCm39)	M269T	probably benign	Het
Ccdc142	A	C	6: 83,079,233 (GRCm39)	Y190S	probably damaging	Het
Ccdc159	C	A	9: 21,845,051 (GRCm39)	Q306K	probably benign	Het
Ccdc180	A	T	4: 45,920,842 (GRCm39)		probably null	Het
Cebpz	A	G	17: 79,229,081 (GRCm39)	F955S	possibly damaging	Het
Cftr	C	T	6: 18,274,696 (GRCm39)	T938I	probably damaging	Het
Col28a1	T	C	6: 8,013,133 (GRCm39)	K973R	probably benign	Het
Cyp2c29	T	C	19: 39,310,138 (GRCm39)		probably benign	Het
Ddx1	A	G	12: 13,293,859 (GRCm39)		probably benign	Het
Duox2	A	C	2: 122,119,826 (GRCm39)	Y867*	probably null	Het
Ereg	T	C	5: 91,237,013 (GRCm39)	Y111H	possibly damaging	Het
Esrrb	T	A	12: 86,565,724 (GRCm39)	L417Q	probably damaging	Het
Fbxw7	G	A	3: 84,859,684 (GRCm39)	R2H	unknown	Het
Galnt6	C	T	15: 100,592,501 (GRCm39)	V569I	probably benign	Het
Gm14226	G	A	2: 154,866,094 (GRCm39)	C17Y	unknown	Het
Gpr150	T	G	13: 76,204,642 (GRCm39)	D101A	probably damaging	Het
Grm1	A	T	10: 10,565,296 (GRCm39)	L1004Q	probably benign	Het
Gtf2a1l	T	A	17: 89,022,351 (GRCm39)	D447E	probably damaging	Het
Gtf2ird1	C	T	5: 134,444,064 (GRCm39)	V64M	probably damaging	Het
Ifi206	A	T	1: 173,308,074 (GRCm39)	W641R		Het
Ifi214	T	A	1: 173,355,486 (GRCm39)	E107D	possibly damaging	Het
Kif19a	T	C	11: 114,675,599 (GRCm39)	V357A	probably damaging	Het
Klhdc7b	T	A	15: 89,271,025 (GRCm39)	S636T	probably benign	Het
Klhl25	C	T	7: 75,515,420 (GRCm39)	R109C	probably damaging	Het
Ltbp2	T	C	12: 84,853,124 (GRCm39)	E835G	probably benign	Het
Mcpt1	T	C	14: 56,256,170 (GRCm39)		probably benign	Het
Myrf	C	A	19: 10,192,434 (GRCm39)	R639L	probably benign	Het
Naip5	T	C	13: 100,359,604 (GRCm39)	H544R	possibly damaging	Het
Nccrp1	T	C	7: 28,245,769 (GRCm39)	I132V	probably benign	Het
Nprl3	C	T	11: 32,187,334 (GRCm39)	V333I	possibly damaging	Het
Or13a25	C	T	7: 140,248,052 (GRCm39)	S277L	possibly damaging	Het
Or14n1-ps1	T	C	7: 86,092,923 (GRCm39)	S245P	probably damaging	Het
Or2o1	T	C	11: 49,051,297 (GRCm39)	M152T	probably benign	Het
Or2y1	T	A	11: 49,385,671 (GRCm39)	S104T	probably benign	Het
Or4b1d	A	T	2: 89,969,114 (GRCm39)	I123N	probably damaging	Het
Or4f62	A	T	2: 111,986,934 (GRCm39)	I213F	probably damaging	Het
Or52h1	T	C	7: 103,829,025 (GRCm39)	N197D	probably damaging	Het
Or56a41	C	A	7: 104,741,808 (GRCm39)	V73F	possibly damaging	Het
Or8c15	T	C	9: 38,121,099 (GRCm39)	V248A	probably benign	Het
Or8d6	T	C	9: 39,853,891 (GRCm39)	S112P	probably damaging	Het
Otx2	A	G	14: 48,896,521 (GRCm39)	M179T	probably damaging	Het
Pmfbp1	A	G	8: 110,265,309 (GRCm39)		probably benign	Het
Ppfia3	T	A	7: 45,011,129 (GRCm39)	T34S	probably benign	Het
Prkcsh	T	C	9: 21,924,375 (GRCm39)	Y502H	probably damaging	Het
Psd	T	C	19: 46,301,775 (GRCm39)	E937G	probably damaging	Het
Rbbp6	T	A	7: 122,600,976 (GRCm39)	I1661N	unknown	Het
Rhobtb1	T	A	10: 69,106,587 (GRCm39)	M446K	probably damaging	Het
Sall3	T	C	18: 81,017,236 (GRCm39)	I231V	probably benign	Het
Slc12a9	C	T	5: 137,325,916 (GRCm39)	V270I	probably damaging	Het
Slc6a15	A	G	10: 103,225,112 (GRCm39)	K67E	probably damaging	Het
Slc9c1	A	G	16: 45,380,646 (GRCm39)	D524G	probably benign	Het
Smpdl3a	A	G	10: 57,687,526 (GRCm39)	D418G	probably benign	Het
Sox6	T	C	7: 115,196,743 (GRCm39)	T296A	probably benign	Het
Ssu2	T	C	6: 112,361,399 (GRCm39)	E19G	probably damaging	Het
Tctn3	T	C	19: 40,600,170 (GRCm39)	N90S	probably damaging	Het
Tex24	A	G	8: 27,834,652 (GRCm39)	Q60R	possibly damaging	Het
Tlcd1	T	A	11: 78,070,470 (GRCm39)	*128R	probably null	Het
Tti1	A	C	2: 157,834,930 (GRCm39)	L1010R	probably damaging	Het
Ttn	A	G	2: 76,567,682 (GRCm39)	L27737P	probably damaging	Het
Ubqln5	T	A	7: 103,778,322 (GRCm39)	K167N	probably benign	Het
Unkl	A	G	17: 25,450,689 (GRCm39)	I492V	possibly damaging	Het
Vmn1r8	G	A	6: 57,013,665 (GRCm39)	V239I	probably benign	Het
Vmn2r101	T	A	17: 19,811,397 (GRCm39)	L494I	probably benign	Het
Vmn2r54	G	T	7: 12,369,877 (GRCm39)	T62K	probably benign	Het

Other mutations in Marchf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Marchf1	APN	8	66,871,529 (GRCm39)	missense	possibly damaging	0.88
IGL02468:Marchf1	APN	8	66,871,563 (GRCm39)	missense	probably damaging	1.00
R0391:Marchf1	UTSW	8	66,871,625 (GRCm39)	missense	probably damaging	1.00
R1500:Marchf1	UTSW	8	66,921,042 (GRCm39)	missense	probably damaging	1.00
R1794:Marchf1	UTSW	8	66,839,594 (GRCm39)	missense	possibly damaging	0.63
R2015:Marchf1	UTSW	8	66,574,473 (GRCm39)	missense	probably damaging	0.99
R2184:Marchf1	UTSW	8	66,840,075 (GRCm39)	missense	probably benign	0.07
R2273:Marchf1	UTSW	8	66,840,151 (GRCm39)	missense	probably benign	0.15
R2274:Marchf1	UTSW	8	66,840,151 (GRCm39)	missense	probably benign	0.15
R2275:Marchf1	UTSW	8	66,840,151 (GRCm39)	missense	probably benign	0.15
R2314:Marchf1	UTSW	8	66,574,442 (GRCm39)	start codon destroyed	probably null	0.77
R3114:Marchf1	UTSW	8	66,840,033 (GRCm39)	missense	probably benign
R4458:Marchf1	UTSW	8	66,908,823 (GRCm39)	missense	probably damaging	1.00
R4656:Marchf1	UTSW	8	66,839,071 (GRCm39)	missense	probably benign	0.05
R4773:Marchf1	UTSW	8	66,839,876 (GRCm39)	missense	probably benign	0.03
R4838:Marchf1	UTSW	8	66,921,015 (GRCm39)	missense	probably damaging	1.00
R5073:Marchf1	UTSW	8	66,839,020 (GRCm39)	missense	probably benign	0.03
R5507:Marchf1	UTSW	8	66,871,542 (GRCm39)	missense	probably damaging	1.00
R5575:Marchf1	UTSW	8	66,920,962 (GRCm39)	missense	probably damaging	1.00
R5916:Marchf1	UTSW	8	66,839,763 (GRCm39)	missense	possibly damaging	0.89
R6931:Marchf1	UTSW	8	66,921,144 (GRCm39)	missense	probably benign	0.03
R7350:Marchf1	UTSW	8	66,921,051 (GRCm39)	nonsense	probably null
R7487:Marchf1	UTSW	8	66,908,726 (GRCm39)	missense	probably benign	0.14
R7531:Marchf1	UTSW	8	66,838,989 (GRCm39)	missense	probably benign
R7563:Marchf1	UTSW	8	66,920,965 (GRCm39)	missense	probably damaging	1.00
R7705:Marchf1	UTSW	8	66,921,169 (GRCm39)	missense	probably benign	0.00
R8142:Marchf1	UTSW	8	66,908,778 (GRCm39)	missense	probably benign	0.07
R8337:Marchf1	UTSW	8	66,871,641 (GRCm39)	missense	probably damaging	1.00
R9188:Marchf1	UTSW	8	66,908,803 (GRCm39)	nonsense	probably null
R9372:Marchf1	UTSW	8	66,921,145 (GRCm39)	missense	probably benign	0.01
R9477:Marchf1	UTSW	8	66,871,542 (GRCm39)	missense	probably damaging	1.00
R9790:Marchf1	UTSW	8	66,729,339 (GRCm39)	missense	probably benign	0.17
R9791:Marchf1	UTSW	8	66,729,339 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TTTGCCTAACATGGTTCAGGG -3'
(R):5'- TATAACCTCAGGTGGGGCTC -3'

Sequencing Primer
(F):5'- TTCAGGGAAGCAAGTGTACTC -3'
(R):5'- GGCTCCCTCTGCAGTTG -3'

Posted On

2021-04-30